Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association.

ABSTRACT:

Background

Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T(-)B(+) natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe viral infections. However, because all known human mutations in CORO1A abrogate protein expression, the role of the protein's functional domains in host immunity is unknown.

Objective

We sought to identify the cause of the primary immunodeficiency in 2 young adult siblings with a history of disseminated varicella, cutaneous warts, and CD4(+) T-cell lymphopenia.

Methods

We performed immunologic, genetic, and biochemical studies in the patients, family members, and healthy control subjects.

Results

Both patients had CD4(+) T-cell lymphopenia an

SUBMITTER: Yee CS 

PROVIDER: S-EPMC4783242 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature